지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 119 - 124 (6page)
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초록· 키워드
오류제보하기
Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been identified. However, clinical characterization of PAH is still incomplete. We present a case of heritable PAH in a Korean family showing serious clinical presentation with high penetrance. Genetic sequencing revealed a known heterozygous BMPR2 pathogenic variant, c.418+5G>A, at a splice site of intron 3. Serious clinical presentation with high penetrance suggested that the interplay of other factors with pathologic variants might be in genotype-phenotype correlation. Further studies are needed to clarify these issues for the development of personalized medicine approaches for PAH.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Farber HW / 2004 / Pulmonary arterial hypertension / N Engl J Med 351:1655~1665
Machado RD / 2009 / Genetics and genomics of pulmonary arterial hypertension / J Am Coll Cardiol 54:32~42
Machado RD / 2015 / Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects / Hum Mutat 36:1113~1127
Leter EM / 2011 / Genetic counselling for pulmonary arterial hypertension: a matter of variable variability / Neth Heart J 19:89~92
McLaughlin VV / 2006 / Pulmonary arterial hypertension / Circulation 114:1417~1431
Machado RD / 2009 / Genetics and genomics of pulmonary arterial hypertension / J Am Coll Cardiol 54:32~42
Machado RD / 2015 / Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects / Hum Mutat 36:1113~1127
Leter EM / 2011 / Genetic counselling for pulmonary arterial hypertension: a matter of variable variability / Neth Heart J 19:89~92
McLaughlin VV / 2006 / Pulmonary arterial hypertension / Circulation 114:1417~1431
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